During his lifetime, Alois Alzheimer described five cases of the “characteristic sickness of the cerebral cortex” that his boss, the eminent psychiatrist Emil Kraepelin, later would name in honor of his late colleague. Now, neurologists in Alzheimer’s home state of Bavaria are investigating how these early patients’ family members fared. Alzheimer’s dramatic account of the 51-year-old woman Auguste D. has become a widely cited milestone in the history of this dreaded disease. Yet it may be his second patient, Johann F., who has inspired the most extensive genealogical research to date of the original five.
In an upcoming issue of Annals of Neurology, currently available online, Hans Kluenemann and colleagues at the University Hospital for Psychiatry, Regensburg, describe the first results of their effort to identify all of the estimated 3,000 past and present members of Johann F’s family. Johann F. died in 1910 at the age of 57. He is of particular interest to science because he had a form of the disease whose pathology includes plaques but no tangles. The paper reports 16 probably affected relatives found in the church records, but Kluenemann says that by now they have identified 38. They are assembling the pedigree of this extended family to identify a gene underlying this version of AD. They already have blood samples from 20 living relatives, but Kluenemann expects his team will need to find and evaluate at least 100-200 individuals.
Kluenemann et al. combed through church records in villages east of Munich along the river Inn, where the family lived for generations. These records revealed genealogical information about Johann F.’s family going back to 1670 and list the cause of death in funeral entries. In their paper, the authors report that four maternal ancestors and three of Johann’s eight siblings also had had mental illness. They conclude that Johann F. belonged to a family with a predisposition to dementia that strikes between 30 and 60 years of age. Of the roughly 2,700 deceased family members, the paper reports information on 200, but the team’s detective work to date has yielded information on 800. Kluenemann estimates that 300 are currently alive, including, perhaps, some in the U.S.
To aid in the search for living relatives, Kluenemann invites researchers who have information on autopsy-confirmed cases of "plaque-only" or "plaque-dominated" presenile dementia with age of onset before age 65 to contact him. Cases from Germany, Austria and Switzerland would be ideal, Kluenemann says, but his search is now world-wide. Please contact Hans.Kluenemann@bkr-regensburg.de. (See also Desperately Seeking Collaborators.)—Gabrielle Strobe
No Available Further Reading
- Klünemann HH, Fronhöfer W, Wurster H, Fischer W, Ibach B, Klein HE. Alzheimer's second patient: Johann F. and his family. Ann Neurol. 2002 Oct;52(4):520-3. PubMed.